Preferred Label : Achromatopsia 2;
Symbol : ACHM2;
CISMeF acronym : ACHM2; RMCH2;
Type : Phenotype, molecular basis known;
Alternative titles and symbols : RMCH2; Rod monochromatism 2; Rod monochromacy 2; Colorblindness, total;
Description : Total colorblindness, also referred to as rod monochromacy or complete achromatopsia,
is a rare congenital autosomal recessive disorder characterized by photophobia, reduced
visual acuity, nystagmus, and the complete inability to discriminate between colors.
Electroretinographic recordings show that in achromatopsia the rod photoreceptor function
is normal, whereas cone photoreceptor responses are absent (summary by Kohl et al.,
1998). - Genetic Heterogeneity of Total Achromatopsia A form of achromatopsia previously
designated achromatopsia-1 (ACHM1) was later found to the same as achromatopsia-3
(ACHM3; 262300), caused by mutation in the CNGB3 gene (605080); ACHM4 (613856) is
caused by mutation in the GNAT2 gene (139340); and ACHM5 (613093) is caused by mutation
in the PDE6C gene (600827).;
Inheritance : Autosomal recessive;
Molecular basis : Caused by mutation in the cyclic nucleotide-gated channel, alpha-3 gene (CNGA3, 600053.0001);
Prefixed ID : #216900;
Origin ID : 216900;
UMLS CUI : C1857618;
Automatic exact mappings (from CISMeF team)
- Broader ORDO disease(s)
- Currated CISMeF NLP mapping
- DO Cross reference
- Genes related to phenotype
- HPO term(s)
- ORDO concept(s)
- Semantic type(s)
- UMLS correspondences (same concept)
- Validated automatic mappings to NTBT
